Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal

Casandra

Casandra Test Code AR83745Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2008863CPT Codes 81265, 81479

Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal

Also known as: HPE PAN FE

Clinical Use

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Use

Use to evaluate for a molecular etiology of holoprosencephaly (HPE) in an affected fetus. HPE is a condition resulting from the failure of the prosencephalon to properly divide into left and right hemispheres. It has a wide range of clinical manifestations from severe (alobar) to less severe forms (lobar or semilobar). The condition can also present without significant brain defects, as in microform HPE. Genetic testing is key in determining the molecular basis of HPE in fetuses, offering insights into potential genetically heritable risks.

Special Instructions

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory. Counseling and informed consent are recommended for genetic testing. Consent forms are available online. Chromosome analysis should be performed in an affected pregnancy before ordering this test.

Limitations

A negative result does not exclude a heritable form of holoprosencephaly. The test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Some exons may not be covered, and deletions of 2 or fewer exons may go undetected. Variants in regulatory and deep intronic regions are not identified. Limitations also include potential interference from pseudogenes and homologous sequences, impacting the detection of certain variants.

Test Details